Incidental Mutation 'IGL02078:Clta'
ID186021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clta
Ensembl Gene ENSMUSG00000028478
Gene Nameclathrin, light polypeptide (Lca)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL02078
Quality Score
Status
Chromosome4
Chromosomal Location44004452-44032846 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44030232 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 168 (F168S)
Ref Sequence ENSEMBL: ENSMUSP00000103481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000107845] [ENSMUST00000107846] [ENSMUST00000107847] [ENSMUST00000107849] [ENSMUST00000107851] [ENSMUST00000170241]
Predicted Effect probably benign
Transcript: ENSMUST00000030201
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 63 406 2.3e-69 PFAM
Pfam:ROK 440 747 1.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107845
SMART Domains Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 215 1.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107846
SMART Domains Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107847
SMART Domains Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 229 2e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107849
AA Change: F168S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478
AA Change: F168S

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 235 3.5e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107851
AA Change: F168S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478
AA Change: F168S

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 15 247 4.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170241
SMART Domains Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging Het
Other mutations in Clta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02414:Clta APN 4 44030274 intron probably benign
IGL03184:Clta APN 4 44025514 missense probably benign 0.12
R0129:Clta UTSW 4 44032424 missense probably benign 0.02
R2248:Clta UTSW 4 44012852 missense probably damaging 1.00
R4489:Clta UTSW 4 44032417 missense probably damaging 0.99
R4599:Clta UTSW 4 44012819 missense probably damaging 1.00
R7432:Clta UTSW 4 44032419 missense possibly damaging 0.79
R7649:Clta UTSW 4 44025494 missense possibly damaging 0.65
Posted On2014-05-07